NM_005143.5(HP):c.-91A>C AND Anhaptoglobinemia

Germline classification:: Affects (1 submission)
Last evaluated:: Nov 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000017248.4

Allele description [Variation Report for NM_005143.5(HP):c.-91A>C]

NM_005143.5(HP):c.-91A>C

Gene:

HP:haptoglobin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.2

Genomic location:

Preferred name:

NM_005143.5(HP):c.-91A>C

HGVS:

NC_000016.10:g.72054562A>C
NG_012651.1:g.4954A>C
NM_001126102.3:c.-91A>C
NM_001318138.2:c.-91A>C
NM_005143.5:c.-91A>CMANE SELECT
NC_000016.9:g.72088461A>C

Nucleotide change:

-61A-C

Links:

OMIM: 140100.0004; dbSNP: rs5471

NCBI 1000 Genomes Browser:

rs5471

Molecular consequence:

NM_001126102.3:c.-91A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001318138.2:c.-91A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_005143.5:c.-91A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:: Anhaptoglobinemia (AHP)
Synonyms:: AHAPTOGLOBINEMIA; ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0013564; MedGen: C3279786; OMIM: 614081

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037520	OMIM	no assertion criteria provided	Affects (Nov 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037520

OMIM

no assertion criteria provided

Affects
(Nov 1, 2003)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A-61C and C-101G Hp gene promoter polymorphisms are, respectively, associated with ahaptoglobinaemia and hypohaptoglobinaemia in Ghana.

Teye K, Quaye IK, Koda Y, Soejima M, Tsuneoka M, Pang H, Ekem I, Amoah AG, Adjei A, Kimura H.

Clin Genet. 2003 Nov;64(5):439-43.

PubMed [citation]

PMID:: 14616769

Details of each submission

From OMIM, SCV000037520.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In Ghana, West Africa, Teye et al. (2003) found that a -61A-C base substitution in the promoter region of the HP gene was associated with anhaptoglobinemia (614081) and was strongly associated with the HP*2 allele (140100.0002). This base substitution was found to decrease transcriptional activity significantly.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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